Linked Data
ClinVar Variation Id:
353324
dbSNP Id:
rs200947079
ExAC:
5:36680686 A / C
gnomAD v2:
5-36680686-A-C
gnomAD v3:
5-36680584-A-C
gnomAD v4:
5-36680584-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36680584A>C , CM000667.2:g.36680584A>C | GRCh38 |
| NC_000005.9:g.36680686A>C , CM000667.1:g.36680686A>C | GRCh37 |
| NC_000005.8:g.36716443A>C | NCBI36 |
| NG_015890.1:g.79230A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265113.9:c.1284A>C MANE Select | ENSP00000265113.4:p.Thr428= | |
| ENST00000381918.4:c.1284A>C | ENSP00000371343.4:p.Thr428= | |
| ENST00000612708.5:c.948A>C | ENSP00000483657.1:p.Thr316= | |
| ENST00000613445.5:c.1146A>C | ENSP00000477672.1:p.Thr382= | |
| ENST00000624112.2:n.4277A>C | ||
| ENST00000679487.1:c.339A>C | ||
| ENST00000679784.1:c.*1196A>C | ENSP00000506030.1:n.*1196A>C | |
| ENST00000679852.1:c.234+724A>C | ||
| ENST00000679958.1:c.320-5481A>C | ENSP00000505246.1:n.320-5481A>C | |
| ENST00000679983.1:c.1284A>C | ENSP00000505238.1:p.Thr428= | |
| ENST00000679992.1:c.1284A>C | ENSP00000506585.1:p.Thr428= | |
| ENST00000680048.1:c.*1777A>C | ENSP00000505296.1:n.*1777A>C | |
| ENST00000680064.1:n.4092A>C | ||
| ENST00000680125.1:c.1284A>C | ENSP00000506424.1:p.Thr428= | |
| ENST00000680232.1:c.1425A>C | ENSP00000506207.1:p.Thr475= | |
| ENST00000680318.1:c.1284A>C | ENSP00000505057.1:p.Thr428= | |
| ENST00000680369.1:c.234+724A>C | ||
| ENST00000680655.1:c.*996A>C | ENSP00000506436.1:n.*996A>C | |
| ENST00000680835.1:c.467A>C | ||
| ENST00000680876.1:n.4465A>C | ||
| ENST00000680878.1:n.4465A>C | ||
| ENST00000680890.1:c.483A>C | ENSP00000505580.1:p.Thr161= | |
| ENST00000681440.1:c.44-3280A>C | ||
| ENST00000681480.1:c.589A>C | ENSP00000506380.1:n.589A>C | |
| ENST00000681633.1:n.4092A>C | ||
| ENST00000681814.1:n.1399A>C | ||
| ENST00000681909.1:c.1146A>C | ENSP00000506599.1:p.Thr382= | |
| ENST00000681926.1:c.1284A>C | ENSP00000505850.1:p.Thr428= | |
| ENST00000265113.8:c.1284A>C | ENSP00000265113.4:p.Thr428= | |
| ENST00000381918.3:c.1284A>C | ENSP00000371343.3:p.Thr428= | |
| ENST00000506178.1:n.238A>C | ||
| ENST00000612708.4:c.948A>C | ENSP00000483657.1:p.Thr316= | |
| ENST00000613445.4:c.1146A>C | ENSP00000477672.1:p.Thr382= | |
| NM_001166695.2:c.1284A>C | NP_001160167.1:p.Thr428= | |
| NM_001289939.1:c.1146A>C | NP_001276868.1:p.Thr382= | |
| NM_001289940.1:c.948A>C | NP_001276869.1:p.Thr316= | |
| NM_004172.4:c.1284A>C | NP_004163.3:p.Thr428= | |
| XM_005248342.1:c.1284A>C | XP_005248399.1:p.Thr428= | |
| XM_011514084.1:c.963A>C | XP_011512386.1:p.Thr321= | |
| XM_005248342.3:c.1284A>C | XP_005248399.1:p.Thr428= | |
| XM_011514084.2:c.963A>C | XP_011512386.1:p.Thr321= | |
| XM_024446181.1:c.1284A>C | XP_024301949.1:p.Thr428= | |
| XM_024446182.1:c.1284A>C | XP_024301950.1:p.Thr428= | |
| NM_004172.5:c.1284A>C MANE Select | NP_004163.3:p.Thr428= | |
| NM_001166695.3:c.1284A>C | NP_001160167.1:p.Thr428= | |
| NM_001289939.2:c.1146A>C | NP_001276868.1:p.Thr382= | |
| NM_001289940.2:c.948A>C | NP_001276869.1:p.Thr316= |